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Familial Creutzfeldt–Jakob disease with a mutation at codon 180 presenting with an atypical phenotype

Min-Ju Yeo, Seung Hwan Lee, Seo‐Young Lee, Yong‐Chul Jeon, Seok‐Joo Park, Han-Jeong Cho, Kyoung‐Chan Choi, Yong‐Sun Kim, Sung‐Hun Kim

Journal of Clinical Neuroscience · 2012 · 13 citations · 5 references

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5

Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects

Piero Parchi, Armin Giese, Sabina Capellari et al. · Annals of Neurology · 1999 · 1.4K citations

, , +17

Genetic prion disease: the EUROCJD experience

Gábor G. Kovács, Maria Puopolo, Anna Ladogana et al. · Human Genetics · 2005 · 448 citations

, , +14

Prion protein immunocytochemistry – UK five centre consensus report

Jeanne E. Bell, Steve Gentleman, James W. Ironside et al. · Neuropathology and Applied Neurobiology · 1997 · 121 citations

, , +17

Clinical features of Creutzfeldt-Jakob disease with V180I mutation

Kazutaka Jin, Yusei Shiga, Satoshi Shibuya et al. · Neurology · 2004 · 69 citations

, , +14

V180I mutation of the prion protein gene associated with atypical PrPSc glycosylation

Stéphanie Chasseigneaux, Isabelle Laffont-Proust, Olivier Marco et al. · Neuroscience Letters · 2006 · 46 citations

, , +16